Condition: Acute Megakaryocytic Leukemias
rs1057519770 in
JAK3 gene and
Acute Megakaryocytic Leukemias
PMID 18397343 2008 Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.
PMID 16843266 2006 JAK3(A572V), JAK3(V722I), and JAK3(P132T) each transform Ba/F3 cells to factor-independent growth, and JAK3(A572V) confers features of megakaryoblastic leukemia in a murine model.